论文部分内容阅读
【目的】检测中国人粘多糖贮积症Ⅰ型患者IDUA基因 (IDUA )突变。【方法】采用PCR SSCP、PCR产物直接测序等技术对 35例粘多糖贮积症Ⅰ型患者的IDUA第 2、6、7、8、9和 10外显子及其相邻区域进行突变筛查。【结果】本研究筛查出 7种突变 ,均为单碱基置换。一内含子区突变nt1486C→T ;一中性突变nt1945G→C ;1种无义突变E40 4X ;4种错义突变 :F198L、L2 18V、A36 1T和V45 4I。【结论】中国人IDUA在第 2、6、7、8、9和 10外显子区存在突变。在上述检测到的 7种突变中 ,A36 1T国外已确定为多态性 ,E40 4X国外已报道为重型突变。而nt1486C→T、F198L和L2 18V和V45 4I为我们首次发现和报道 ,可能为新突变 ,但其突变性质还有待于进一步鉴定。
【Objective】 To detect the mutation of IDUA gene (IDUA) in Chinese mucopolysaccharidosis type Ⅰ patients. 【Method】 The mutations in exons 2, 6, 7, 8, 9 and 10 of IDUA and their adjacent regions of 35 patients with type 1 mucopolysaccharidosis were screened by PCR SSCP and direct sequencing of PCR products. . 【Results】 Seven mutations were screened in this study, all of which were single base substitutions. An intron region nt1486C → T; a neutral mutation nt1945G → C; a nonsense mutation E40 4X; four missense mutations: F198L, L2 18V, A36 1T and V45 4I. 【Conclusion】 Chinese IDUA has mutations in exon 2, 6, 7, 8, 9 and 10. Of the seven mutations detected above, A36 1T has been identified as a polymorphism in foreign countries, and E40 4X has been reported as a heavy mutation in foreign countries. However, nt1486C → T, F198L, L218V and V45 4I were the first to be discovered and reported by us, and they may be new mutations. However, the nature of mutation needs to be further identified.